Canonical Allele Identifier: CA2666213

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 514696
• ClinVar RCV Id: RCV000934034
• dbSNP Id: rs151049166
• ExAC: 3:150690370 C / T
• gnomAD v2: 3-150690370-C-T
• gnomAD v3: 3-150972583-C-T
• gnomAD v4: 3-150972583-C-T
• MyVariant Identifiers: chr3:g.150690370C>T (hg19) ; chr3:g.150972583C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972583C>T , CM000665.2:g.150972583C>T	GRCh38
NC_000003.11:g.150690370C>T , CM000665.1:g.150690370C>T	GRCh37
NC_000003.10:g.152173060C>T	NCBI36
NG_009168.1:g.5417G>A , LRG_700:g.5417G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.126G>A MANE Select	ENSP00000322280.1:p.Thr42=
ENST00000468836.2:c.102G>A	ENSP00000419892.2:p.Thr34=
ENST00000327047.5:c.126G>A	ENSP00000322280.1:p.Thr42=
ENST00000328863.8:c.126G>A	ENSP00000329158.4:p.Thr42=
ENST00000468836.1:c.-275G>A	ENSP00000419892.1:n.-275G>A
ENST00000472224.1:n.132G>A
NM_001195794.1:c.126G>A , LRG_700t1:c.126G>A	NP_001182723.1:p.Thr42=
NM_001256819.1:c.126G>A	NP_001243748.1:p.Thr42=
NM_174878.2:c.126G>A	NP_777367.1:p.Thr42=
NR_046380.2:n.417G>A
XR_924167.1:n.438G>A
NM_001256819.2:c.126G>A	NP_001243748.1:p.Thr42=
NM_174878.3:c.126G>A MANE Select	NP_777367.1:p.Thr42=
NR_046380.3:n.145G>A